Results:
CLRN1 mutations were present in all 6 patients. The retinitis pigmentosa followed rod-cone degeneration pattern in all patients. Age range at the time of examination was 2 to 53 maturation years. Male and female ratio was 2/4, respectively. Night blindness noticed in the mean 14 years of age, hearing problems appeared by the mean of 4 years of age. Mean visual acuity was 20/32. No color vision defects were found. Both cone and rods full field ERG was abolished and mfERG waves were not reproducible. Central visual field was constricted to 4 degree. The mean of central macula thickness was 264±150 microns with cystic changes and significant shortening of inner segment ellipsoid band on SD-OCT images. Irregular cone mosaic patterns were present at AO images.